A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
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DOI: 10.1016/j.bone.2017.07.013
Abstract: GNAS exons 1-13 encode the biallelically expressed alpha-subunit of the stimulatory G protein (Gαs). Additional transcripts derived from this locus use alternative first exons that undergo parent-specific methylation, thus allowing transcription only from the non-modified… read more here.
Keywords: refines region; methylation; gnas exon; novel deletion ... See more keywords